Astrid R. Oudakker

This study presents a one-step protocol to differentiate hiPSCs into functional astrocytes, enabling co-culture with neurons to support network development.

This study shows that targeting AASS in astrocytes reduces neurotoxicity and improves mitochondrial function in a model of pyridoxine-dependent epilepsy.

The paper uses whole-brain clearing and imaging to identify region- and cell type-specific changes in GABAergic neurons in a mouse model of Kleefstra Syndrome.

This study identifies primary cilia as regulators of neuronal homeostatic plasticity, showing they dynamically change volume in response to activity levels and that ciliary dysfunction impairs multiple aspects of homeostasis.

This study identifies a human-specific CHD2 regulatory variant that influences cortical development tempo via lysosomal homeostasis, showing therapeutic potential through lysosomal restoration.

This study characterizes a human neuronal model of CACNA1A haploinsufficiency, revealing synaptic deficits and increased intrinsic excitability linked to reduced potassium channel function.

This study uses human iPSC-derived neuronal networks to show that homeostatic plasticity involves network re-arrangement, increased excitability, and changes in gene expression related to extracellular matrix and cell communication.

This study shows that KANSL1 deficiency leads to oxidative stress-induced autophagy, causing synaptic dysfunction and neuronal network impairments in neurons.

This study investigates the role of CDH13 in regulating GABAergic inhibition in human-derived neuronal networks and shows its impact on E/I balance.

This study shows that EHMT1 deficiency in human neurons leads to NMDAR hyperfunction, causing neuronal network dysfunction in Kleefstra syndrome, and demonstrates pharmacological rescue of these phenotypes.